The mutation in the sandy mouse has been attributed to a deletion in the Dtnbp1 gene from intron 5 nucleotide 3701 to intron 7 nucleotide 12377. The deletion results in the loss of 52 amino acids from position 119-172 and abolishes expression of the protein. Western analysis did not detect protein in hippocampus tissue from homozygous mutant mice. (J:85123, J:169460)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count